A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv672e212



Internal ID20149128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87932014..87960402hg38UCSC Ensembl
chr14:88398358..88426746hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3828389
hg1928389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581368, esv3581369
Samples400070PC, 400101EH
Known GenesGALC
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv672e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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